Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2580417136

Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 2062667

ClinVar RCV Id: RCV002957908

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060360.3:p.Met3723Ile	CA371790383 NM_017890.5:c.11169G>A CA371790385 NM_017890.5:c.11169G>C CA371790387 NM_017890.5:c.11169G>T